Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol TBX2 contributors: mct/pgu - updated : 29-08-2015
HGNC name T-box 2
HGNC id 11597
Corresponding disease
DEL17Q23 chromosome 17q23.2 microdeletion
Location 17q23.2      Physical location : 59.477.256 - 59.486.825
Synonym name T-box protein 2
Synonym symbol(s) FLJ10169
TYPE functioning gene
STRUCTURE 9.57 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box)
Binding site   enhancer   transcription factor
text structure
  • a full consensus MITF response element
  • a Sp1 element and a reverse CCAAT box essential for basal promoter activity
  • a downstream promoter element (DPE) in the promoter which significantly influences basal activity
  • MAPPING cloned Y linked N status confirmed
    Physical map
    VMP1 17q23.2 likely ortholog of rat vacuole membrane protein 1 TUBD1 17q23.2 likely ortholog of mouse tubulin, delta 1 RPS6KB1 17q23.3 ribosomal protein S6 kinase, 70kDa, polypeptide 1 LOC51136 17q23.2 PTD016 protein LOC390805 17 similar to DEAH (Asp-Glu-Ala-His) box polypeptide 40 LOC388404 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC201201 17q23.2 hypothetical LOC201201 ABC1 17q23.2-q23.3 amplified in breast cancer 1 LOC388405 17 LOC388405 CA4 17q23 carbonic anhydrase IV USP32 17q23.3 ubiquitin specific protease 32 LOC124773 17q23.3 hypothetical protein LOC124773 LOC284166 17q23.3 similar to 60S ribosomal protein L12 APPBP2 17q23 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 LOC388406 17 hypothetical gene supported by AK131012 PPM1D 17q23.1 protein phosphatase 1D magnesium-dependent, delta isoform BCAS3 17q23 breast carcinoma amplified sequence 3 TBX2 17q23 T-box 2 LOC388407 17 hypothetical gene supported by BC046200 TBX4 17q23 T-box 4 MGC71999 17q23.3 alpha-NAC protein BRIP1 17q22-q24 BRCA1 interacting protein C-terminal helicase 1 KIAA1287 17q23.3 KIAA1287 protein TRAP240 17q23 KIAA1287 protein LOC284167 17q23.3 similar to RPOM_HUMAN LOC388408 17 similar to Ribosomal protein S6 kinase (S6K) (p70-S6K) LOC388409 17 hypothetical gene supported by BC058890 FLJ25818 17q24.1 hypothetical protein FLJ25818 FLJ12760 17q24.1 hypothetical protein FLJ12760 TLK2 17q23 tousled-like kinase 2 MRC2 17q21.1-q23 mannose receptor, C type 2 FLJ35757 17q24.1 hypothetical protein FLJ35757
    TRANSCRIPTS type messenger
    text multiple transcripts 2 to 4 kb at least due to alternative polyadenylation
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3396 74.9 712 - 1998 9434949
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate   
    Respiratorylung   highly
    Urinarybladder   highly
     kidney   highly
    Visualeye   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    cell lineage
    cell lines melanoma cell lines
    at STAGE
    physiological period embryo, fetal, pregnancy
  • placenta, lung
  • specifically expressed around three distinct components of the pronephric nephron: the tubule, duct and glomus
  • a large N-terminal T-box DNA-binding domain
    interspecies homolog to rattus TBX2 (91.6 pc)
    homolog to murine Tbx2 (95.6 pc)
  • T-box family
  • CATEGORY DNA associated , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • involved in the transcriptional regulation of genes required for mesoderm differentiation
  • probably playing a role in limb pattern formation
  • may have a potential role in tumorigenesis as an immortalizing agent
  • as TBX3 may play a dual role during the radial to vertical growth phase transition by both inhibiting senescence via repression of CDKN1A expression, and enhancing melanoma invasiveness by decreasing E-cadherin level
  • T-box transcriptional repressor, functioning to demarcate the territory of the pronephric nephron
  • TBX2, TBX3, TBX4, TBX5 and three members of TBX1 (TBX1, TBX15, TBX18), Brachyury (T) and Eomes (TBR2) are expressed in the developing limb
  • TBX18 and other members of the T-box gene family, namely, TBX1, TBX2, TBX3, and TBX20, play additional roles in development and homeostasis of other components of the excretory system
  • CELLULAR PROCESS cell life, proliferation/growth
    nucleotide, transcription, regulation
  • regulation
  • anteroposterior axis
  • positive regulation of cell proliferation
  • cardiac muscle development
  • mammary gland development
  • negative regulation of transcription from RNA polymerase II promoter
    a component
  • TBX2/MAGED1 complex protected cells against anoikis by downregulating CDKN2A
    DNA binding through T-box
    small molecule
  • CDKN2A repression
  • E2F1, MYC or HRAS activation
  • has a central part in directing HAS2 and TTGFB2 expression, facilitating endocardial cushion formation
  • targets NDRG1 through a previously undescribed mechanism involving the recruitment of early growth response 1 (EGR1)
  • interacts with EGR1 and TBX2 requires EGR1 to target the NDRG1 proximal promoter
  • PML and TBX2 act in an autoregulatory loop to control the effective execution of the senescence program 7)
  • TBX2-mediated regulation of CDKN1A and CDKN1B represents a crucial node in the network integrating patterning information and cell cycle regulation that underlies growth, differentiation, and branching morphogenesis of this organ
  • CNBP up-regulates TBX2 and SMARCA5, and down-regulates WNT5B gene expression
  • TBX2 acts as regulator of melanogenesis by repressing the expression of the gene encoding the melanosomal protein OCA2
  • cell & other
    Other regulated by MITF
    corresponding disease(s) DEL17Q23
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in primary breast and ovarian cancer
    Variant & Polymorphism
    Candidate gene
    Therapy target
    PSCA and TBX2 might be candidate targets for cancer therapy in endometrial adenocarcinoma
  • Tbx2 in the embryonic mouse heart at early stages of development throughout the myocardium of the heart tube both represses proliferation and impairs secondary heart field (SHF) progenitor cell deployment into the outflow tract (OFT), implicating the upregulation of Ndrg2 and downregulation of Ndrg4 expression
  • lungs of Tbx2-deficient mice are markedly hypoplastic and exhibit reduced branching morphogenesis